Krabbe disease due to saposin A deficiency
- Synonyms
- Krabbe disease, atypical, due to saposin A deficiency; Saposin A Deficiency
Available tests
Clinical tests (39 available)
Biochemical Genetics Tests
Clinical features
Help- Abnormality of the digestive system
- Feeding difficulties
Feeding difficulties
- MedGen UID: 65429
- Concept ID: C0232466
- Finding: Finding
Abnormality of the digestive system
- Feeding difficulties
- Abnormality of the musculoskeletal system
- Hypertonia
Hypertonia
- MedGen UID: 10132
- Concept ID: C0026826
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypertonia
- Abnormality of the nervous system
- Cerebral dysmyelination
Cerebral dysmyelination
- MedGen UID: 343222
- Concept ID: C1854885
- Finding: Finding
Abnormality of the nervous system
- Global brain atrophy
Global brain atrophy
- MedGen UID: 66840
- Concept ID: C0241816
- Finding: Pathologic Function
Abnormality of the nervous system
- Hyperintensity of cerebral white matter on MRI
Hyperintensity of cerebral white matter on MRI
- MedGen UID: 811125
- Concept ID: C2938912
- Finding: Pathologic Function
Abnormality of the nervous system
- Hyperreflexia
Hyperreflexia
- MedGen UID: 57738
- Concept ID: C0151889
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Increased CSF protein concentration
Increased CSF protein concentration
- MedGen UID: 329971
- Concept ID: C1806780
- Finding: Finding
Abnormality of the nervous system
- Peripheral axonal neuropathy
Peripheral axonal neuropathy
- MedGen UID: 266071
- Concept ID: C1263857
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Progressive neurologic deterioration
Progressive neurologic deterioration
- MedGen UID: 381506
- Concept ID: C1854838
- Finding: Finding
Abnormality of the nervous system
- Tonic seizure
Tonic seizure
- MedGen UID: 82855
- Concept ID: C0270844
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Vegetative state
Vegetative state
- MedGen UID: 182977
- Concept ID: C0917808
- Finding: Pathologic Function
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Cerebral dysmyelination
- Abnormality of the respiratory system
- Central apnea
Central apnea
- MedGen UID: 854403
- Concept ID: C3887548
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Respiratory failure
Respiratory failure
- MedGen UID: 257837
- Concept ID: C1145670
- Finding: Disease or Syndrome
Abnormality of the respiratory system
- Respiratory insufficiency
Respiratory insufficiency
- MedGen UID: 11197
- Concept ID: C0035229
- Finding: Pathologic Function
Abnormality of the respiratory system
- Central apnea
- ACMG ACT, 2022American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Decreased galactocerebrosidase, elevated psychosine, Krabbe Disease (infantile form), 2022
- ACMG Algorithm, 2022American College of Medical Genetics and Genomics, Algorithm, Krabbe disease: galactocerebrosidase deficiency, 2022
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